Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1911
Abstract: This study was aimed to analyze the commonalities and distinctions of voltage‐gated sodium channels, Nav1.2, Nav1.6, in neurodevelopmental disorders. An observational study was performed including two patients with neurodevelopmental disorders. The demographic, electroclinical, genetic, and… read more here.
Keywords: neurodevelopmental disorders; commonalities distinctions; distinctions two; two neurodevelopmental ... See more keywords
Mutations in the Scn8a DIIS4 voltage sensor reveal new distinctions among hypomorphic and null Nav1.6 sodium channels
Sign Up to like & getrecommendations! Published in 2019 at "Genes"
DOI: 10.1111/gbb.12612
Abstract: Mutations in the voltage‐gated sodium channel gene SCN8A cause a broad range of human diseases, including epilepsy, intellectual disability, and ataxia. Here we describe three mouse lines on the C57BL/6J background with novel, overlapping mutations… read more here.
Keywords: voltage; diis4 voltage; scn8a diis4; scn8a ... See more keywords
TNF-α/STAT3 pathway epigenetically upregulates Nav1.6 expression in DRG and contributes to neuropathic pain induced by L5-VRT
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Neuroinflammation"
DOI: 10.1186/s12974-019-1421-8
Abstract: BackgroundStudies showed that upregulation of Nav1.6 increased the neuronal excitability and participated in neuropathic pain in the dorsal root ganglion (DRG). However, the molecular mechanisms underlying Nav1.6 upregulation were not reported yet.MethodsThe paw withdrawal threshold… read more here.
Keywords: drg; stat3; scn8a; neuropathic pain ... See more keywords